In Vitro Model of Cockayne Syndrome Created
The first, stem-cell derived in vitro cellular model of Cockayne syndrome (CS) was recently created by researchers from the University of California, San Diego School of Medicine and Rady Children’s Hospital-San Diego. The findings, published in the journal Human Molecular Genetics, based the model after previous research that used induced pluripotent stem cells to create neuronal models of autism spectrum disorders. Mirroring those efforts, the research team generated the in vitro CS cell model by taking skin cells from individuals with CS, reverting them to induced pluripotent stem cells, then reprogramming the stem cells to differentiate as neural progenitor cells and neurons. The neurons subsequently formed functioning networks, called “mini brains.” The CS networks allowed researchers to identify areas of cellular dysfunction compared to normal neuronal networks from control models. Specifically, they noted that CSB-deficient neuronal networks displayed altered electrophysiological activity, including diminished ability to grow synaptic connections to other neurons and synchronize activities. in “This work provides an alternative to existing models for studying neural-specific aspects of CS,” said the study’s lead researcher. “It reveals that CSB protein is required for normal neuronal function. It shows the feasibility of constructing a new and relevant human in vitro model with potential clinical interest.” To read more about this study, click here.
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